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Succinylacetone
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Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia - A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant
2022 |
First Faculty of Medicine
publication
Hepatocellular carcinoma in an infant with tyrosinemia type 1
2023 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice
2014 |
First Faculty of Medicine
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First Macedonian child with tyrosinemia type 1 successfully treated with nitisinone and report of a novel mutation in the FAH gene
2017 |
First Faculty of Medicine